Metadata | |
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ID | DOID:0070402 |
Name | hypomyelinating leukodystrophy 22 |
Definition | A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. https://pubmed.ncbi.nlm.nih.gov/33313762/ |
Xrefs | |
Synonyms |
HLD22 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |